A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002086



Internal ID18744617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:50685023..51177923hg38UCSC Ensembl
Innerchr2:50912161..51405061hg19UCSC Ensembl
Innerchr2:50765665..51258565hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38492901
hg19492901
hg18492901
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726016
Samples
Known GenesNRXN1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002086
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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